A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Peter Meinke,Alastair R W Kerr,Rafal Czapiewski,Jose I de Las Heras,Charles R Dixon,Elizabeth Harris,Heike Kölbel,Francesco Muntoni,Ulrike Schara,Volker Straub,Benedikt Schoser,Manfred Wehnert,Eric C Schirmer

EBioMedicine（2020）

引用 25|浏览45

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摘要

The Wellcome Trust, Muscular Dystrophy UK, Medical Research Council, European Community's Seventh Framework Programme "Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)".

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关键词

Emery-Dreifuss muscular dystrophy,Nuclear envelope,Nuclear envelope transmembrane protein,primer library,Orphan disease

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